De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features
Published inClinical genetics, vol. 78, no. 2, p. 175-180
Publication date2010
Abstract
Keywords
- Child
- Child, Preschool
- *Chromosome Aberrations
- Comparative Genomic Hybridization
- DNA Copy Number Variations/genetics
- *Facies
- Female
- *Gene Duplication
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Infant, Newborn
- Inheritance Patterns/genetics
- Intellectual Disability/*genetics
- Methyl-CpG-Binding Protein 2/*genetics
- Pregnancy
- Young Adult
Citation (ISO format)
MAKRYTHANASIS, Periklis et al. De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features. In: Clinical genetics, 2010, vol. 78, n° 2, p. 175–180. doi: 10.1111/j.1399-0004.2010.01371.x
Main files (1)
Article
Identifiers
- PID : unige:21106
- DOI : 10.1111/j.1399-0004.2010.01371.x
- PMID : 20236124
ISSN of the journal0009-9163